C23Y (p.Cys23Tyr) variant of NUDT15 (Q9NV35)
C23Y (p.Cys23Tyr) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- TOPMed rs1950544157
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.96
- CADD 16.70
- PolyPhen-2 0.05
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available